By Judy Salerno, M.D., M.S., President and CEO of Susan G. Komen and Theodora Ross, M.D., Ph.D., Author of "A Cancer in the Family: Take Control of Your Genetic Inheritance" and Director of University of Texas Southwestern Medical Center Cancer Genetics Program
It may be impossible to fully appreciate the impact our parents have on us... until the first time you're told that you "sound like your mother" (or father).
Our families shape everything from our diction to dining preferences, from our humor to our habits. But perhaps even more significantly, they shape our health, or at least provide some clues as to what we could encounter in our lives.
Ask yourself, do you know -- completely and accurately -- your family's health history? Have you looked into those specific diseases that affected your mother, father, aunt or uncle? Have you considered how their experiences may apply to you now and in the future?
It can be far too easy to dismiss health issues -- particularly cancer -- as just "flukes" or "red herrings," even if they're seen again and again across a single family. In one of our own families [Ross], diagnoses of cancer were well-known (even if they were sometimes incorrectly labeled in conversation), yet they were conveniently deemed coincidental. It was years before results of a postponed genetic test showed otherwise.
But in many families, cancer isn't even discussed. Health struggles and "flukes" aren't shared.
In a recent interview, Jacob Bernstein, the son of the late, multitalented writer, director and journalist Nora Ephron, discussed how his mother cherry-picked what she told us about herself. Ephron has been proclaimed by many as a "relentless truth-teller," but kept her myelodysplastic syndrome that led to her leukemia a secret for as long as she could.
Bernstein's explanations for this secrecy ranged from a desire to prevent insurance discrimination to a fear of being a "victim." This common belief that those with cancer are victims who can't muster the strength to contribute is worth debunking. People with cancer are not simple victims. They are simply people with a problem to solve. Why Ephron would detail the pain of her divorce with Carl Bernstein for us in her book Heartburn, but keep her cancer diagnosis a secret is, at a gut level, understandable, but at the brain level, a disappointment. Her description of her cancer experience would have interested and affected us all.
After listening to this interview, a friend commented with, "If I had cancer, I'd never tell my kids." When asked why, he said he was estranged from his kids and they wouldn't care. Ouch. Makes sense.
They should care, because knowing your family's health history matters. And when it comes to cancer, few of us have knowledge of an accurate family history.
This is reflected in the alarming fact that the majority of people with mutations that cause the most common hereditary cancer syndromes (hereditary breast and ovarian cancer and Lynch Syndrome) are not aware of their mutations. This is astounding, as actions based on this knowledge could save their lives.
When it comes to breast cancer, the majority of breast cancers (approximately 90 percent) are not caused by known inherited gene mutations. However, there are a number of known family health history factors that have been linked to an increased risk of breast cancer. Some of them may surprise you:
- Having one or more first-degree female relatives with breast cancer
These are all important pieces of your health history that should be shared with your health care provider to help him or her understand your risk of breast cancer, and whether genetic counseling or testing might make sense for you.
In many families, the genetic changes associated with hereditary breast cancer are unknown. Identifying additional genetic risk factors for breast cancer is an active area of medical research. We are currently only aware of a handful of genes that when mutant cause hereditary cancers.
Some inherited gene mutations linked to breast cancer include BRCA1/2, ATM, CDH1, CHEK2, PALB2, PTEN, STK11, and TP53. We are continuously investigating families with strong histories of cancer to improve our understanding of how inherited cancers develop, and how to block that process. Sequencing the complete DNA of patients with strong family histories of cancer, but no known gene mutation, has identified broken genes that could someday be on a list of known inherited gene mutations linked to cancer. Just last year, two groups (one led by Komen Scholar Dr. William Foulkes, the other by Dr. Yuntao Xie) identified a new candidate breast cancer susceptibility gene - RECQL - that may someday be added to the list of genes that are tested to help women assess their risk and take action for their health.
Nora Ephron wanted us all to "have what she was having," and to bring happiness to others, especially her family. She didn't want to burden her children and colleagues with her disease. But these kinds of desires can backfire and impede improvements in our family's health.
If you are your family's outspoken, careful and competent health detective, future generations will thank you.